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Arrhythmogenic cardiomyopathy v2.11 Catherine Snow Panel version has been signed off
Arrhythmogenic cardiomyopathy v2.10 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Panel version has been signed off
Arrhythmogenic cardiomyopathy v2.9 CDH2 Ivone Leong commented on gene: CDH2: Tagged with "for-review" for the specialist group to review whether this gene should remain Green.
Arrhythmogenic cardiomyopathy v2.9 CDH2 Ivone Leong Tag for-review tag was added to gene: CDH2.
Arrhythmogenic cardiomyopathy v2.9 Ivone Leong Panel version has been signed off
Arrhythmogenic cardiomyopathy v2.7 RYR2 Ivone Leong commented on gene: RYR2: Have tagged with "for-review" for the next major review of the panel.
Arrhythmogenic cardiomyopathy v2.7 RYR2 Ivone Leong Tag for-review tag was added to gene: RYR2.
Arrhythmogenic cardiomyopathy v2.7 CDH2 Ivone Leong Phenotypes for gene: CDH2 were changed from to Arrhythmogenic right ventricular dysplasia, familial, 14, 618920
Arrhythmogenic cardiomyopathy v2.6 CDH2 Zornitza Stark reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v2.6 RYR2 Zornitza Stark reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: None; Publications: 11159936, 25041964, 29543670; Phenotypes: Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v2.6 FLNC Sarah Leigh Added comment: Comment on publications: PMID 31924696 reports two new trucating variants in cases of arrhythmogenic right ventricular cardiomyopathy.
Arrhythmogenic cardiomyopathy v2.6 FLNC Sarah Leigh Publications for gene: FLNC were set to 27908349; 26666891
Arrhythmogenic cardiomyopathy v2.5 Sarah Leigh Panel version has been signed off
Arrhythmogenic cardiomyopathy v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Arrhythmogenic cardiomyopathy v2.0 Ivone Leong promoted panel to version 2.0
Arrhythmogenic cardiomyopathy v1.59 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Arrhythmogenic cardiomyopathy v1.58 CDH2 Ivone Leong Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.57 CDH2 Kate Thomson reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.56 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Arrhythmogenic cardiomyopathy v1.55 ANK2 Ivone Leong reviewed gene: ANK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arrhythmogenic cardiomyopathy v1.55 ANK2 Ivone Leong gene: ANK2 was added
gene: ANK2 was added to Arrhythmogenic cardiomyopathy. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.54 TTN Ivone Leong Phenotypes for gene: TTN were changed from to Cardiomyopathy, dilated, 1G, 604145
Arrhythmogenic cardiomyopathy v1.53 TTN Ivone Leong Publications for gene: TTN were set to
Arrhythmogenic cardiomyopathy v1.52 RBM20 Ivone Leong Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172
Arrhythmogenic cardiomyopathy v1.51 RBM20 Ivone Leong Publications for gene: RBM20 were set to
Arrhythmogenic cardiomyopathy v1.50 SCN5A Ivone Leong Publications for gene: SCN5A were set to 24317018; doi:10.​1007/​s12265-016-9673-5
Arrhythmogenic cardiomyopathy v1.49 PLN Ivone Leong Publications for gene: PLN were set to 22820313; 28102477
Arrhythmogenic cardiomyopathy v1.48 LMNA Ivone Leong Phenotypes for gene: LMNA were changed from to LMNA-related DCM
Arrhythmogenic cardiomyopathy v1.47 FLNC Ivone Leong Phenotypes for gene: FLNC were changed from v to Arrhythmogenic cardiomyopathy; Cardiomyopathy, familial restrictive 5 (617047); Myopathy, distal, 4 (614065); Myopathy, myofibrillar, 5 (609524)
Arrhythmogenic cardiomyopathy v1.46 DES Ivone Leong Publications for gene: DES were set to 29567486
Arrhythmogenic cardiomyopathy v1.45 TTN Ivone Leong reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 SCN5A Ivone Leong reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 RYR2 Ivone Leong reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 RBM20 Ivone Leong reviewed gene: RBM20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 CDH2 Ivone Leong reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 TMEM43 Ivone Leong reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 PKP2 Ivone Leong reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 LMNA Ivone Leong reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 JUP Ivone Leong reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 FLNC Ivone Leong reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 DSP Ivone Leong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 DSG2 Ivone Leong reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 DSC2 Ivone Leong reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.45 DES Ivone Leong reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.44 RYR2 Ivone Leong Source Expert Review Amber was added to RYR2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Arrhythmogenic cardiomyopathy v1.44 LMNA Ivone Leong Source Expert Review Green was added to LMNA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.43 FLNC Ellen McDonagh Classified gene: FLNC as Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.43 FLNC Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green based on two expert reviews and Definitive gene validity curation by ClinGen Expert Panel.
Arrhythmogenic cardiomyopathy v1.43 FLNC Ellen McDonagh Gene: flnc has been classified as Green List (High Evidence).
Arrhythmogenic cardiomyopathy v1.42 FLNC Ellen McDonagh Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic cardiomyopathy v1.41 FLNC Ellen McDonagh Phenotypes for gene: FLNC were changed from to v
Arrhythmogenic cardiomyopathy v1.40 CDH2 Ellen McDonagh Classified gene: CDH2 as Amber List (moderate evidence)
Arrhythmogenic cardiomyopathy v1.40 CDH2 Ellen McDonagh Added comment: Comment on list classification: Was agreed by the GMS Cardiology Specialist Group that this should be Amber rating on a call on Thursday 3rd October 2019.
Arrhythmogenic cardiomyopathy v1.40 CDH2 Ellen McDonagh Gene: cdh2 has been classified as Amber List (Moderate Evidence).
Arrhythmogenic cardiomyopathy v1.39 CDH2 Ellen McDonagh Mode of inheritance for gene: CDH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic cardiomyopathy v1.38 CDH2 Ellen McDonagh Publications for gene: CDH2 were set to
Arrhythmogenic cardiomyopathy v1.37 CDH2 Ellen McDonagh gene: CDH2 was added
gene: CDH2 was added to Arrhythmogenic cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: CDH2 was set to Unknown
Arrhythmogenic cardiomyopathy v1.36 PLN James Eden reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23595706, 23568436, 24909667, 25700660, 30763825; Phenotypes: Cardiomyopathy, dilated, 1P 609909, Cardiomyopathy, hypertrophic, 18 613874; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic cardiomyopathy v1.36 RYR2 James Eden reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25041964, 27761164; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 600996, Ventricular tachycardia, catecholaminergic polymorphic, 1 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic cardiomyopathy v1.36 SCN5A James Eden reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: None; Publications: 26916278, 24317018, 28069705; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic cardiomyopathy v1.36 RBM20 James Eden reviewed gene: RBM20: Rating: RED; Mode of pathogenicity: None; Publications: 29650543, 22466703, 22561820; Phenotypes: Cardiomyopathy, dilated, 1DD 613172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arrhythmogenic cardiomyopathy v1.36 DES James Eden reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: None; Publications: 23168288, 30370089, 20829228, 25921558, 29212896; Phenotypes: Cardiomyopathy, dilated, 1I 604765, Myopathy, myofibrillar, 1 601419, Scapuloperoneal syndrome, neurogenic, Kaeser type 181400; Mode of inheritance: Unknown
Arrhythmogenic cardiomyopathy v1.36 TTN Matthew Edwards reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30535219, 31251381; Phenotypes: OMIM 604145 Cardiomyopathy, dilated, 1G; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 TTN Matthew Edwards Deleted their review
Arrhythmogenic cardiomyopathy v1.36 TTN Matthew Edwards reviewed gene: TTN: Rating: ; Mode of pathogenicity: None; Publications: 30535219, 31251381; Phenotypes: OMIM 604145 Cardiomyopathy, dilated, 1G; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 TGFB3 Matthew Edwards reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arrhythmogenic cardiomyopathy v1.36 SCN5A Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 RBM20 Matthew Edwards reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650543, 30482687; Phenotypes: OMIM: 613172 Cardiomyopathy, dilated, 1DD; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 LMNA Matthew Edwards reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LMNA-related DCM; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 TMEM43 Matthew Edwards reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257, 23812740; Phenotypes: Arrhythmogenic right ventricular dysplasia 5; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 RYR2 Matthew Edwards reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 PLN Matthew Edwards reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22820313; Phenotypes: DCM, HCM; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 PKP2 Matthew Edwards reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OMIM: Arrhythmogenic right ventricular dysplasia 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 JUP Matthew Edwards reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: OMIM: Arrhythmogenic right ventricular dysplasia 12, Naxon disease (AR); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 DSP Matthew Edwards reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 DSP Matthew Edwards Deleted their review
Arrhythmogenic cardiomyopathy v1.36 DSP Matthew Edwards reviewed gene: DSP: Rating: ; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair and keratoderma, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 DSG2 Matthew Edwards reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: OMIM: 610193 Arrhythmogenic right ventricular dysplasia 10; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 DSG2 Matthew Edwards Deleted their review
Arrhythmogenic cardiomyopathy v1.36 DSG2 Matthew Edwards changed review comment from: On CGGL royal Brompton ACM panel. Definitive ARVC gene.; to: On CGGL royal Brompton ACM panel. Definitive ARVC gene.
Arrhythmogenic cardiomyopathy v1.36 DSG2 Matthew Edwards reviewed gene: DSG2: Rating: ; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: OMIM: 610193 Arrhythmogenic right ventricular dysplasia 10; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 DSC2 Matthew Edwards reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29567486; Phenotypes: 610476 Arrhythmogenic right ventricular dysplasia 11; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 DES Matthew Edwards reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 27532257; Phenotypes: OMIM 601419 Myopathy, myofibrillar,; Mode of inheritance: None; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.36 FLNC Ivone Leong Publications for gene: FLNC were set to 27908349
Arrhythmogenic cardiomyopathy v1.35 DSG2 Ivone Leong Publications for gene: DSG2 were set to 27532257; 23500315
Arrhythmogenic cardiomyopathy v1.34 DSC2 Ivone Leong Publications for gene: DSC2 were set to 27532257; 23500315
Arrhythmogenic cardiomyopathy v1.33 TMEM43 Ivone Leong Publications for gene: TMEM43 were set to 27532257; 23812740
Arrhythmogenic cardiomyopathy v1.32 RYR2 Ivone Leong Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/; 19926015; 17875969
Arrhythmogenic cardiomyopathy v1.31 RYR2 Ivone Leong Phenotypes for gene: RYR2 were changed from Arrhythmogenic right ventricular dysplasia 2 to Arrhythmogenic right ventricular dysplasia 2; Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Arrhythmogenic cardiomyopathy v1.30 RYR2 Ivone Leong Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/
Arrhythmogenic cardiomyopathy v1.29 PLN Ivone Leong Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)
Arrhythmogenic cardiomyopathy v1.28 DES Ivone Leong Publications for gene: DES were set to
Arrhythmogenic cardiomyopathy v1.27 DES Ivone Leong Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
Arrhythmogenic cardiomyopathy v1.26 Ivone Leong List of related panels changed from Arrhythmogenic Right Ventricular Cardiomyopathy; Arrythmogenic cardiomyopathy to Arrhythmogenic Right Ventricular Cardiomyopathy; Arrythmogenic cardiomyopathy; R133
Arrhythmogenic cardiomyopathy v1.25 FLNC Matthew Edwards reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26666891; Phenotypes: Arrhythmogenic cardiomyopathy, Cardiomyopathy, familial restrictive 5 (OMIM:617047), Myopathy, distal, 4 (OMIM: 614065), Myopathy, myofibrillar, 5 (OMIM:609524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.23 TTN Rebecca Whittington commented on gene: TTN: Cardiomyopathy, dilated, 1G (604145); Cardiomyopathy, familial hypertrophic, 9 (613765) and others
Arrhythmogenic cardiomyopathy v1.23 TGFB3 Rebecca Whittington commented on gene: TGFB3: Arrhythmogenic right ventricular dysplasia 1 (107970); Loeys-Dietz syndrome 5 (615582)
Arrhythmogenic cardiomyopathy v1.23 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (614022); Brugada syndrome 1 (601144); Cardiomyopathy, dilated, 1E (601154) ; Heart block, nonprogressive (113900); Long QT3 (603830)
Arrhythmogenic cardiomyopathy v1.23 LMNA Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A (115200) and others
Arrhythmogenic cardiomyopathy v1.23 LDB3 Rebecca Whittington commented on gene: LDB3: Cardiomyopathy, dilated, 1C, with or without LVNC; Cardiomyopathy, hypertrophic, 24; Cardiomyopathy, dilated, 1C, with or without LVNC (601493); Myopathy, myofibrillar, 4 (609452)
Arrhythmogenic cardiomyopathy v1.23 CTNNA3 Rebecca Whittington commented on gene: CTNNA3: Arrhythmogenic right ventricular dysplasia, familial, 13 (615616)
Arrhythmogenic cardiomyopathy v1.23 TMEM43 Rebecca Whittington commented on gene: TMEM43: Arrhythmogenic right ventricular dysplasia 5 (604400); Emery-Dreifuss muscular dystrophy 7, AD (614302)
Arrhythmogenic cardiomyopathy v1.23 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Arrhythmogenic cardiomyopathy v1.23 PLN Rebecca Whittington commented on gene: PLN: Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)
Arrhythmogenic cardiomyopathy v1.23 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 (609040)
Arrhythmogenic cardiomyopathy v1.23 JUP Rebecca Whittington commented on gene: JUP: Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214)
Arrhythmogenic cardiomyopathy v1.23 DSP Rebecca Whittington commented on gene: DSP: Arrhythmogenic right ventricular dysplasia 8 (607450) Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
Arrhythmogenic cardiomyopathy v1.23 DSG2 Rebecca Whittington commented on gene: DSG2: Arrhythmogenic right ventricular dysplasia 10 (610193); Cardiomyopathy, dilated, 1BB (612877)
Arrhythmogenic cardiomyopathy v1.23 DSC2 Rebecca Whittington commented on gene: DSC2: Arrhythmogenic right ventricular dysplasia 11 (610476)
Arrhythmogenic cardiomyopathy v1.23 DES Rebecca Whittington commented on gene: DES: Cardiomyopathy, dilated, 1I (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
Arrhythmogenic cardiomyopathy v1.23 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: No OMIM association; HGMD DMD/ARVC
Arrhythmogenic cardiomyopathy v1.22 TTN Rebecca Whittington commented on gene: TTN: PubMED: 29567486 - core gene. All missense on HGMD. Not for panel.
Arrhythmogenic cardiomyopathy v1.22 TGFB3 Rebecca Whittington commented on gene: TGFB3: On HGMDPro assoc mainly with Loeys-Dietz. ARVD1 OMIM: 107970. Beffagna Cardiovascular Research 65 (2005) 366 373: large ARVC family where index is 11 year old. Variant tracked with disease in a number of family members. Very rare cause of ARVC
Arrhythmogenic cardiomyopathy v1.22 SCN5A Rebecca Whittington commented on gene: SCN5A: PubMED: 29567486 - core gene. Few variants on HGMD. 24317018 - I137M identified in one proband (no MAF, BI supporting). 28341781 DM origionally but downgraded to ?DM. Little evidence
Arrhythmogenic cardiomyopathy v1.22 LMNA Rebecca Whittington commented on gene: LMNA: PubMED: 29567486 - core gene. Few patients on HGMD with DM variant and ARVC. Pubmed: 22199124 (LMNA variants mimic ARVC, some segregation. 4 families with ARVC and LMNA), 23684604. Genetic screening for LMNA gene is important for ARVC patients, particularly in patients with bradycardia (26620845) - 2 unrelated probands identified with LVNC variant - first LMNA mutation p.M1K was detected in a 62-year-old male proband, while the second mutation p.W514X was found in a 70-year-old male proband.
Arrhythmogenic cardiomyopathy v1.22 LDB3 Rebecca Whittington commented on gene: LDB3: Some patients with DCM have LVNC.
Arrhythmogenic cardiomyopathy v1.22 CTNNA3 Rebecca Whittington commented on gene: CTNNA3: High rate of truncating variants in general population. Only a couple of reports assoc LQT and ARVC (but no real evidence). Only weak Class 3s reported at BGL. Low penetrance: 30092956
Arrhythmogenic cardiomyopathy v1.22 TMEM43 Rebecca Whittington commented on gene: TMEM43: PubMED: 29567486 - core gene. Listed on HGMDPro assoc with ARVC and DCM - quite strong evidence from segregation etc for ARVC and recommendations to add to panels. Class 3s reported at BGL. Pubmed 26840987. Founder mutation p.S358L - functional evidence. Rare cause of ARVC
Arrhythmogenic cardiomyopathy v1.22 RYR2 Rebecca Whittington commented on gene: RYR2: PubMED: 29567486 - core gene. Lots of entries on HGMDPro for CPVT as considered to be the main gene. Reported C5 RYR2 assoc with short QT. Multiple variants on HGMD however pathogenicity downgraded to VUS: Pubmed: 28404607. Insufficient evidence to include.
Arrhythmogenic cardiomyopathy v1.22 PLN Rebecca Whittington commented on gene: PLN: DCM/HCM on OMIM - Not ARVC. HGMD - HCM/DCM. PubMED: 29567486 - core gene.
Arrhythmogenic cardiomyopathy v1.22 PKP2 Rebecca Whittington commented on gene: PKP2: PubMED: 29567486 - core gene. Lots of reports on HGMDPro assoc with ARVC /Brugada- strong evidence with this. Class5 variants reported at BGL assoc with arrhythmia.
Arrhythmogenic cardiomyopathy v1.22 JUP Rebecca Whittington commented on gene: JUP: PubMED: 29567486 - core gene. Lots of evidence on HGMDPro for ARVC. NO pathogenic variants reported at BGL- only C3s.
Arrhythmogenic cardiomyopathy v1.22 DSP Rebecca Whittington commented on gene: DSP: PubMED: 29567486 - core gene
Arrhythmogenic cardiomyopathy v1.22 DSG2 Rebecca Whittington commented on gene: DSG2: PubMED: 29567486 - core gene. Lots of entries on HGMDPro for ARVC - including good evidence. One C4 reported at BGL.
Arrhythmogenic cardiomyopathy v1.22 DSC2 Rebecca Whittington commented on gene: DSC2: PubMED: 29567486 - core gene. Lots of entries for ARVC for this gene including functional evidence. One class 4 assoc with LVNC - others weak Class 3.
Arrhythmogenic cardiomyopathy v1.22 DES Rebecca Whittington commented on gene: DES: PubMED: 29567486 - core gene. Myopathy, myofibrillar, 1 associated with cardiac abnormalities (AD/AR inheritance). Less common ARVC gene. Listed in review, rare cause <1% Pubmed: 30092956. HGMD, 2 DM variants, 1 with functional work.
Arrhythmogenic cardiomyopathy v1.22 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: HGMD: 8 variants listed assoc with mainly DCM, with with ARVC. Two references are 2018 (PMID30165862). Both NGS screens of cardiomyopathy patients. A 2011 paper: Rodriguez (2011) Circ Cardiovasc Genet 4: 349 PubMed: 21642240 describes 6 variants assoc with DCM, 3 LP - 2 segregated with disease and functional studies in rat myocytes supported pathogenicity, however all have some freq including one which segregates with disease has 24 alleles on Gnomad and 1 homozygote .
Arrhythmogenic cardiomyopathy v1.21 TTN Rebecca Whittington reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 TGFB3 Rebecca Whittington reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 SCN5A Rebecca Whittington reviewed gene: SCN5A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 LDB3 Rebecca Whittington reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 CTNNA3 Rebecca Whittington reviewed gene: CTNNA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 TMEM43 Rebecca Whittington reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 RYR2 Rebecca Whittington reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 PLN Rebecca Whittington reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 PKP2 Rebecca Whittington reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 JUP Rebecca Whittington reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 DSP Rebecca Whittington reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 DSG2 Rebecca Whittington reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 DSC2 Rebecca Whittington reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 DES Rebecca Whittington reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.21 CAVIN4 Rebecca Whittington reviewed gene: CAVIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Arrhythmogenic cardiomyopathy v1.20 FLNC Ellen McDonagh Marked gene: FLNC as ready
Arrhythmogenic cardiomyopathy v1.20 FLNC Ellen McDonagh Added comment: Comment when marking as ready: After discussion in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, this gene should remain Amber until more evidence arises.
Arrhythmogenic cardiomyopathy v1.20 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Arrhythmogenic cardiomyopathy v1.20 RYR2 Ellen McDonagh Tag deletions tag was added to gene: RYR2.
Arrhythmogenic cardiomyopathy v1.20 PLN Ellen McDonagh Marked gene: PLN as ready
Arrhythmogenic cardiomyopathy v1.20 PLN Ellen McDonagh Added comment: Comment when marking as ready: It was confirmed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 that this gene should remain Green.
Arrhythmogenic cardiomyopathy v1.20 PLN Ellen McDonagh Gene: pln has been classified as Green List (High Evidence).
Arrhythmogenic cardiomyopathy v1.20 CAVIN4 Ellen McDonagh gene: CAVIN4 was added
gene: CAVIN4 was added to Arrhythmogenic cardiomyopathy. Sources: South West GLH
Mode of inheritance for gene: CAVIN4 was set to Unknown
Arrhythmogenic cardiomyopathy v1.20 TTN Ellen McDonagh Source South West GLH was added to TTN.
Mode of inheritance for gene TTN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic cardiomyopathy v1.20 TGFB3 Ellen McDonagh Source South West GLH was added to TGFB3.
Mode of inheritance for gene TGFB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.20 SCN5A Ellen McDonagh Source South West GLH was added to SCN5A.
Mode of inheritance for gene SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.20 LMNA Ellen McDonagh Source South West GLH was added to LMNA.
Mode of inheritance for gene LMNA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.20 LDB3 Ellen McDonagh Source South West GLH was added to LDB3.
Mode of inheritance for gene LDB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.20 CTNNA3 Ellen McDonagh Source South West GLH was added to CTNNA3.
Mode of inheritance for gene CTNNA3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.20 TMEM43 Ellen McDonagh Source South West GLH was added to TMEM43.
Mode of inheritance for gene TMEM43 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.20 RYR2 Ellen McDonagh Source South West GLH was added to RYR2.
Mode of inheritance for gene RYR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.20 PLN Ellen McDonagh Source South West GLH was added to PLN.
Mode of inheritance for gene PLN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.20 PKP2 Ellen McDonagh Source South West GLH was added to PKP2.
Mode of inheritance for gene PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.20 JUP Ellen McDonagh Source South West GLH was added to JUP.
Mode of inheritance for gene JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic cardiomyopathy v1.20 DSP Ellen McDonagh Source South West GLH was added to DSP.
Mode of inheritance for gene DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic cardiomyopathy v1.20 DSG2 Ellen McDonagh Source South West GLH was added to DSG2.
Mode of inheritance for gene DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.20 DSC2 Ellen McDonagh Source South West GLH was added to DSC2.
Mode of inheritance for gene DSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic cardiomyopathy v1.20 DES Ellen McDonagh Source South West GLH was added to DES.
Mode of inheritance for gene DES was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arrhythmogenic cardiomyopathy v1.19 RBM20 Ellen McDonagh reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 TTN Ellen McDonagh reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 TGFB3 Ellen McDonagh reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 SCN5A Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Arrhythmogenic cardiomyopathy v1.19 LMNA Ellen McDonagh reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 TMEM43 Ellen McDonagh reviewed gene: TMEM43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 RYR2 Ellen McDonagh reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 PLN Ellen McDonagh reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 PKP2 Ellen McDonagh reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 JUP Ellen McDonagh reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 DSP Ellen McDonagh reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 DSG2 Ellen McDonagh reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 DSC2 Ellen McDonagh reviewed gene: DSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.19 DES Ellen McDonagh reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Arrhythmogenic cardiomyopathy v1.18 RBM20 Ellen McDonagh gene: RBM20 was added
gene: RBM20 was added to Arrhythmogenic cardiomyopathy. Sources: London South GLH
Mode of inheritance for gene: RBM20 was set to
Arrhythmogenic cardiomyopathy v1.18 TTN Ellen McDonagh Source London South GLH was added to TTN.
Arrhythmogenic cardiomyopathy v1.18 TGFB3 Ellen McDonagh Source London South GLH was added to TGFB3.
Arrhythmogenic cardiomyopathy v1.18 SCN5A Ellen McDonagh Source London South GLH was added to SCN5A.
Arrhythmogenic cardiomyopathy v1.18 LMNA Ellen McDonagh Source London South GLH was added to LMNA.
Arrhythmogenic cardiomyopathy v1.18 TMEM43 Ellen McDonagh Source London South GLH was added to TMEM43.
Arrhythmogenic cardiomyopathy v1.18 RYR2 Ellen McDonagh Source London South GLH was added to RYR2.
Arrhythmogenic cardiomyopathy v1.18 PLN Ellen McDonagh Source London South GLH was added to PLN.
Arrhythmogenic cardiomyopathy v1.18 PKP2 Ellen McDonagh Source London South GLH was added to PKP2.
Arrhythmogenic cardiomyopathy v1.18 JUP Ellen McDonagh Source London South GLH was added to JUP.
Arrhythmogenic cardiomyopathy v1.18 DSP Ellen McDonagh Source London South GLH was added to DSP.
Arrhythmogenic cardiomyopathy v1.18 DSG2 Ellen McDonagh Source London South GLH was added to DSG2.
Arrhythmogenic cardiomyopathy v1.18 DSC2 Ellen McDonagh Source London South GLH was added to DSC2.
Arrhythmogenic cardiomyopathy v1.18 DES Ellen McDonagh Source London South GLH was added to DES.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.17 TMEM43 James Eden reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: ; Publications: 23812740, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 5 (604400), Emery-Dreifuss muscular dystrophy 7, AD (614302); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.17 PKP2 James Eden reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 9 (609040); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.17 JUP James Eden reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 12 (611528), Naxos disease (601214); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.17 DSP James Eden reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 8 (607450), Cardiomyopathy, dilated, with woolly hair and keratoderma (605676), Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821), Epidermolysis bullosa, lethal acantholytic (609638), Keratosis palmoplantaris striata II (612908), Skin fragility-woolly hair syndrome (607655); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.17 DSG2 James Eden reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 10 (610193), Cardiomyopathy, dilated, 1BB (612877); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.17 DSC2 James Eden reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23500315, 27532257; Phenotypes: Arrhythmogenic right ventricular dysplasia 11 (610476), Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.16 TMEM43 Ellen McDonagh Source North West GLH was added to TMEM43.
Added phenotypes Emery-Dreifuss muscular dystrophy 7, AD (614302); Arrhythmogenic right ventricular dysplasia 5 (604400) for gene: TMEM43
Publications for gene TMEM43 were changed from to 27532257; 23812740
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.16 PKP2 Ellen McDonagh Source North West GLH was added to PKP2.
Added phenotypes Arrhythmogenic right ventricular dysplasia 9 (609040) for gene: PKP2
Publications for gene PKP2 were changed from to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.16 JUP Ellen McDonagh Source North West GLH was added to JUP.
Added phenotypes Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214) for gene: JUP
Publications for gene JUP were changed from to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.16 DSP Ellen McDonagh Source North West GLH was added to DSP.
Added phenotypes Keratosis palmoplantaris striata II (612908); Skin fragility-woolly hair syndrome (607655); Arrhythmogenic right ventricular dysplasia 8 (607450); Epidermolysis bullosa, lethal acantholytic (609638); Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821) for gene: DSP
Publications for gene DSP were changed from to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.16 DSG2 Ellen McDonagh Source North West GLH was added to DSG2.
Added phenotypes Cardiomyopathy, dilated, 1BB (612877); Arrhythmogenic right ventricular dysplasia 10 (610193) for gene: DSG2
Publications for gene DSG2 were changed from to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.16 DSC2 Ellen McDonagh Source North West GLH was added to DSC2.
Added phenotypes Arrhythmogenic right ventricular dysplasia 11 (610476); Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476) for gene: DSC2
Publications for gene DSC2 were changed from to 27532257; 23500315
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.15 RYR2 Anna de Burca reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:19926015, 17875969; Phenotypes: Arrhythmogenic right ventricular cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.15 Louise Daugherty List of related panels changed from Arrhythmogenic Right Ventricular Cardiomyopathy;Arrythmogenic cardiomyopathy to Arrhythmogenic Right Ventricular Cardiomyopathy; Arrythmogenic cardiomyopathy
Arrhythmogenic cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory Deleted their comment
Arrhythmogenic cardiomyopathy v1.14 FLNC Oxford Medical Genetics Laboratory Deleted their comment
Arrhythmogenic cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory Deleted their review
Arrhythmogenic cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory edited their review of gene: RYR2: Added comment: Would be interested to hear findings of Manchester laboratory testing this gene in ARVC cohorts.; Changed mode of pathogenicity: Other
Arrhythmogenic cardiomyopathy v1.14 RYR2 Oxford Medical Genetics Laboratory Deleted their comment
Arrhythmogenic cardiomyopathy v1.14 FLNC Ellen McDonagh Publications for gene: FLNC were set to
Arrhythmogenic cardiomyopathy v1.13 FLNC Ellen McDonagh Classified gene: FLNC as Amber List (moderate evidence)
Arrhythmogenic cardiomyopathy v1.13 FLNC Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to new review. For discussion with the NHSE GMS cardiology specialist group.
Arrhythmogenic cardiomyopathy v1.13 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Arrhythmogenic cardiomyopathy v1.12 RYR2 Oxford Medical Genetics Laboratory edited their review of gene: RYR2: Added comment: Would be interested to hear findings of Manchester laboratory testing this gene in ARVC cohorts. ; Changed rating: AMBER; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.12 FLNC Oxford Medical Genetics Laboratory edited their review of gene: FLNC: Added comment: Emerging evidence from the literature and our cohort that truncating variants in this gene cause Arrhythmogenic cardiomyopathy/ARVC.; Changed rating: GREEN; Changed publications: Publications supporting role of truncating variants in this gene in ARVC - PMID: 27908349; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed); Set current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.12 PLN Oxford Medical Genetics Laboratory commented on gene: PLN: PLN Arg14del varaint reported to be a founder variant in Netherlands and reported in indiviudals with DCM and ARVC. We have not detected this variant in our ARVC cohort (n=121 individuals screened) or DCM cohort (n=1022). Therefore certianly a rare cause of ARVC.
Arrhythmogenic cardiomyopathy v1.11 PLN Ellen McDonagh Tag founder-effect tag was added to gene: PLN.
Arrhythmogenic cardiomyopathy v1.11 PLN Ellen McDonagh Publications for gene: PLN were set to
Arrhythmogenic cardiomyopathy v1.10 FLNC Oxford Medical Genetics Laboratory reviewed gene: FLNC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arrhythmogenic cardiomyopathy v1.10 RYR2 Oxford Medical Genetics Laboratory edited their review of gene: RYR2: Added comment: Emerging evidence from the literature and our cohort that truncating variants in this gene cause Arrhythmogenic cardiomyopathy/ARVC.; Changed rating: GREEN; Changed publications: Publications supporting role of truncating variants in this gene in ARVC - PMID: 27908349; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed); Set current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.10 PLN Oxford Medical Genetics Laboratory edited their review of gene: PLN: Added comment: PLN Arg14del varaint reported to be a founder variant in Netherlands and reported in indiviudals with DCM and ARVC. We have not detected this variant in our ARVC cohort (n=121 individuals screened) or DCM cohort (n=1022). Therefore certianly a rare cause of ARVC.; Changed publications: Publications supporting role of Arg14del founder varaint in ARVC - PMID: 22820313, PMID: 28102477; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Arrhythmogenic cardiomyopathy v1.9 FLNC Ellen McDonagh gene: FLNC was added
gene: FLNC was added to Arrhythmogenic cardiomyopathy. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FLNC was set to
Arrhythmogenic cardiomyopathy v1.9 RYR2 Ellen McDonagh Source Wessex and West Midlands GLH was added to RYR2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.9 PLN Ellen McDonagh Source Wessex and West Midlands GLH was added to PLN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Arrhythmogenic cardiomyopathy v1.8 Ellen McDonagh Panel name changed from Arrythmogenic cardiomyopathy to Arrhythmogenic cardiomyopathy
List of related panels changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrhythmogenic Right Ventricular Cardiomyopathy;Arrythmogenic cardiomyopathy
Arrhythmogenic cardiomyopathy v1.6 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease
Arrhythmogenic cardiomyopathy v1.5 Ellen McDonagh Panel name changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrythmogenic cardiomyopathy
List of related panels changed from to Arrhythmogenic Right Ventricular Cardiomyopathy